Variant report

Variant	rs10045916
Chromosome Location	chr5:146785008-146785009
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:146784844-146785505	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr5:146783239-146787438	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr5:146784983-146785183	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
DPYSL3	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10042298	1.00[CEU][hapmap]
rs10043932	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs10476887	1.00[CEU][hapmap]
rs11952440	1.00[CEU][hapmap]
rs11955404	1.00[CEU][hapmap]
rs12657083	1.00[CEU][hapmap]
rs1432852	1.00[CEU][hapmap]
rs1549915	1.00[CEU][hapmap]
rs17096661	1.00[CEU][hapmap]
rs17106725	1.00[CEU][hapmap]
rs2163767	1.00[CEU][hapmap]
rs3792839	1.00[CEU][hapmap]
rs6886313	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6891468	1.00[CEU][hapmap]
rs6897123	1.00[CEU][hapmap]
rs7737670	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015804	chr5:146066000-146788233	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv537915	chr5:146066000-146788233	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv519847	chr5:146166378-146812647	Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv599938	chr5:146169511-146806365	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv869238	chr5:146179403-146787986	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146767800-146796600	Strong transcription	Brain Germinal Matrix	brain
2	chr5:146769400-146800600	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:146769800-146810400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:146770000-146800600	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr5:146770200-146805200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:146770200-146810800	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:146770400-146796600	Strong transcription	Fetal Brain Female	brain
8	chr5:146770400-146800600	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:146770600-146798200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr5:146770600-146800400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:146771600-146786600	Weak transcription	Gastric	stomach
12	chr5:146772800-146795600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:146773600-146788200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:146773600-146800600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:146774000-146799400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
16	chr5:146774200-146796800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr5:146775400-146797000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:146776200-146796000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr5:146777600-146796800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:146777600-146800600	Strong transcription	H9 Cell Line	embryonic stem cell
21	chr5:146777800-146790400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:146779800-146798400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:146780400-146796800	Weak transcription	Spleen	Spleen
24	chr5:146780800-146796600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr5:146782400-146790600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:146782600-146785400	Enhancers	HUVEC	blood vessel
27	chr5:146782800-146791800	Enhancers	Fetal Heart	heart
28	chr5:146783000-146785400	Genic enhancers	Fetal Muscle Leg	muscle
29	chr5:146783200-146785400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:146783200-146786800	Genic enhancers	Duodenum Smooth Muscle	Duodenum
31	chr5:146783400-146785200	Enhancers	Right Atrium	heart
32	chr5:146783400-146785600	Enhancers	Brain Substantia Nigra	brain
33	chr5:146783400-146796200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:146783400-146800800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:146783600-146785400	Enhancers	Lung	lung
36	chr5:146783600-146785800	Enhancers	Psoas Muscle	Psoas
37	chr5:146784000-146785200	Strong transcription	Fetal Brain Male	brain
38	chr5:146784000-146785800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:146784000-146786000	Genic enhancers	Colon Smooth Muscle	Colon
40	chr5:146784000-146786000	Strong transcription	Fetal Intestine Large	intestine
41	chr5:146784000-146787000	Enhancers	NHDF-Ad	bronchial
42	chr5:146784200-146785400	Strong transcription	Fetal Intestine Small	intestine
43	chr5:146784200-146785800	Strong transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr5:146784200-146790200	Weak transcription	Fetal Lung	lung
45	chr5:146784400-146785200	Weak transcription	Stomach Mucosa	stomach
46	chr5:146784400-146785400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:146784400-146785600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:146784400-146786800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:146784400-146787600	Genic enhancers	Osteobl	bone
50	chr5:146784400-146788400	Genic enhancers	Ovary	ovary

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